MOLECULAR PATHOLOGY AND ADVANCED DIAGNOSTICS LABORATORY

Academic Year 2025/2026 - Teacher: LUCA FALZONE

Expected Learning Outcomes

The aim of the course is to provide knowledge and application bases of the main laboratory diagnostic methods, with particular reference to molecular investigation methods. Furthermore, the course will provide in-depth knowledge of the molecular bases of pathologies, with particular reference to genetic and oncological pathologies.

Taking the Dublin descriptors into account, the expected learning outcomes are therefore:

1. Knowledge and understanding: At the end of the course, students will have acquired theoretical and scientific knowledge of the main laboratory diagnostic methods, with particular reference to molecular investigation techniques. They will also have an in-depth understanding of the molecular bases of diseases, particularly genetic and oncological ones, and will understand their pathogenetic mechanisms.

2. Ability to apply knowledge and understanding: Students will be able to apply their acquired knowledge to the interpretation of the results of the main laboratory diagnostic methods, particularly molecular ones. They will be able to correlate molecular alterations with pathological findings, especially in the context of genetic and oncological diseases, understanding the rationale behind the various diagnostic strategies.

3. Independent judgment: Students will have developed critical skills in evaluating data from laboratory investigations, being able to recognize the reliability of results, methodological limitations, and potential sources of error. They will be able to critically interpret diagnostic information and compare it with data in the scientific literature.

4. Communication skills: Students will be able to clearly and appropriately communicate information, results, and interpretations related to diagnostic methods and the molecular basis of diseases, using appropriate scientific terminology that is understandable to both specialists and non-specialists.

5. Learning skills: Students will have developed independent learning skills that will allow them to continuously update their knowledge in the field of laboratory diagnostics and the molecular biology of diseases, including through critical consultation of the scientific literature, in a constantly evolving field.

Course Structure

The teaching activity will be frontal and integrated with some seminars and laboratory exercises. Further in-depth material will also be distributed (scientific articles on specific topics).

Required Prerequisites

Knowledge of basic scientific subjects (general pathology, biology and molecular biology)

Attendance of Lessons

Mandatory

Detailed Course Content

The course aims to deepen the molecular bases of pathologies with particular reference to genetic and oncological pathologies. The role of molecular alterations in the prognosis and response to treatment of pathologies will also be explored. Finally, the main molecular techniques applied to laboratory diagnostics will be discussed, such as basic and advanced molecular diagnostic methods, namely the principle and functioning of polymerase chain reaction (PCR), nested PCR, real-time PCR, droplet digital PCR, microarray platforms and old and new generation sequencing platforms. These topics will be discussed from a technical and applicative point of view.

Textbook Information

Medicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta

Patogenesi-Basi genetiche e molecolari delle malattie. Piccin. Autori Ruggero Pardi - Pier Paolo Di Fiore

Course Planning

 SubjectsText References
1Introduction to the course: Molecular pathogenesis of diseasesMedicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - GullettaPatogenesi-Basi genetiche e molecolari delle malattie. Piccin. Autori Ruggero Pardi - Pier Paolo Di Fiore
2Hereditary-familial tumorsMedicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - GullettaPatogenesi-Basi genetiche e molecolari delle malattie. Piccin. Autori Ruggero Pardi - Pier Paolo Di Fiore
3Molecular Oncology 1Medicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - GullettaPatogenesi-Basi genetiche e molecolari delle malattie. Piccin. Autori Ruggero Pardi - Pier Paolo Di Fiore
4Molecular Oncology 2Medicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - GullettaPatogenesi-Basi genetiche e molecolari delle malattie. Piccin. Autori Ruggero Pardi - Pier Paolo Di Fiore
5DNA Methylation and Pathological ImplicationsMedicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - GullettaPatogenesi-Basi genetiche e molecolari delle malattie. Piccin. Autori Ruggero Pardi - Pier Paolo Di Fiore
6Alteration of non-coding RNA and pathological implicationsMedicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - GullettaPatogenesi-Basi genetiche e molecolari delle malattie. Piccin. Autori Ruggero Pardi - Pier Paolo Di Fiore
7Extraction and purification of nucleic acids and their analysis through PCRMedicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta
8nested PCR and Real-Time PCRMedicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta
9droplet digital PCR and its applicationsMedicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta
10Microarray platformsMedicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta
11First-Generation Sequencing TechniquesMedicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta
12Next-Generation Sequencing TechniquesMedicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta

Learning Assessment

Learning Assessment Procedures

The student's preparation will be assessed through an oral exam on the topics covered in class or during laboratory exercises.

Examples of frequently asked questions and / or exercises

- Describe the operating principle of droplet digital PCR and how it differs from standard PCR methods.

- Types of microarray methods and description of the hybridization principle

- Technical and amplification and sequencing characteristics of next-generation sequencers

- What are the main molecular pathways altered in colon cancer?

- What is the effect of different mutations in the EGFR gene in lung cancer?

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